A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730048



Internal ID10313684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:33687953..33688652hg38UCSC Ensembl
Outerchr5:33688058..33688757hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670746, essv6934449, essv6875496, essv6958684, essv6690217, essv6711624, essv6963323, essv6739746, essv6758253
SamplesSSM036, SSM008, SSM027, SSM042, SSM092, SSM021, SSM031, SSM004, SSM052
Known GenesADAMTS12
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2730048
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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